Uniparental Disomy Studies By PCR Analysis

Abstract

Uniparental disomy is a condition that results in many genetic anomalies. The condition involves an individual who has inherited both members of a homologous pair of chromosomes from one parent, while all other chromosome pairs come from biparental inheritance. That is, each parent contributes one chromosome to each homologous pair. The intent of the study was to find individuals with this condition. To test for uniparental disomy PCR technology was used to amplify regions of polymorphic microsatellite repeats. This PCR technique allows the experimenter to determine the origin of the child's chromosomes. Two individuals suspected of uniparental disomy were tested. The result was negative for uniparental disomy in both cases.